Variant report

Variant	rs12431530
Chromosome Location	chr14:35096610-35096611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35022313..35024405-chr14:35095448..35098245,2	K562	blood:
2	chr14:35022750..35025769-chr14:35096151..35100054,3	MCF-7	breast:
3	chr14:35088009..35090239-chr14:35096440..35098532,2	K562	blood:

Variant related genes	Relation type
ENSG00000206588	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10129588	0.89[ASN][1000 genomes]
rs10130504	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10134991	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10145193	0.82[EUR][1000 genomes]
rs10151057	0.82[EUR][1000 genomes]
rs10151255	0.82[EUR][1000 genomes]
rs10151653	0.89[ASN][1000 genomes]
rs10151959	0.83[EUR][1000 genomes]
rs10431614	1.00[ASN][1000 genomes]
rs10872888	0.80[EUR][1000 genomes]
rs11156848	0.85[ASN][1000 genomes]
rs11156851	0.81[EUR][1000 genomes]
rs11622002	0.86[EUR][1000 genomes]
rs11847241	0.83[EUR][1000 genomes]
rs11847568	0.84[EUR][1000 genomes]
rs12879294	0.89[ASN][1000 genomes]
rs12881595	0.89[ASN][1000 genomes]
rs34755567	0.89[ASN][1000 genomes]
rs34939235	0.83[ASN][1000 genomes]
rs35239119	0.85[ASN][1000 genomes]
rs36068893	0.82[EUR][1000 genomes]
rs3809450	0.83[EUR][1000 genomes]
rs3809451	0.83[EUR][1000 genomes]
rs3809452	0.82[EUR][1000 genomes]
rs3923104	0.81[EUR][1000 genomes]
rs3958	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4312221	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4347522	0.95[ASN][1000 genomes]
rs4981245	0.87[ASN][1000 genomes]
rs4982192	0.83[EUR][1000 genomes]
rs4982194	0.83[EUR][1000 genomes]
rs4982195	0.83[EUR][1000 genomes]
rs4982196	0.83[EUR][1000 genomes]
rs61553463	1.00[ASN][1000 genomes]
rs61979724	1.00[ASN][1000 genomes]
rs6571665	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6650498	1.00[ASN][1000 genomes]
rs7144356	0.82[EUR][1000 genomes]
rs7153918	0.89[ASN][1000 genomes]
rs7157392	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161203	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161260	0.82[EUR][1000 genomes]
rs8014673	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8021267	0.89[ASN][1000 genomes]
rs9652316	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35054600-35098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:35060800-35097800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:35063000-35098400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:35068400-35098000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:35070400-35098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:35073600-35097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:35076600-35098000	Weak transcription	HSMMtube	muscle
8	chr14:35077000-35097600	Weak transcription	Esophagus	oesophagus
9	chr14:35077000-35098600	Weak transcription	Pancreas	Pancrea
10	chr14:35077600-35097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:35077600-35098000	Weak transcription	Aorta	Aorta
12	chr14:35077600-35098200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:35077600-35098600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:35078000-35098000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:35078000-35098000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:35078000-35098200	Weak transcription	Ovary	ovary
17	chr14:35078200-35098600	Weak transcription	Gastric	stomach
18	chr14:35079400-35097800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:35081200-35097000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:35085400-35097800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:35085600-35098000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:35086200-35097600	Weak transcription	Lung	lung
23	chr14:35089400-35097200	Weak transcription	Right Ventricle	heart
24	chr14:35089600-35097600	Weak transcription	Stomach Mucosa	stomach
25	chr14:35089600-35098000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:35089800-35097600	Weak transcription	Colonic Mucosa	Colon
27	chr14:35090400-35097600	Weak transcription	Spleen	Spleen
28	chr14:35091000-35097000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:35091000-35097800	Weak transcription	Fetal Lung	lung
30	chr14:35091000-35098000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:35092000-35098000	Weak transcription	Fetal Thymus	thymus
32	chr14:35092400-35098000	Weak transcription	Fetal Kidney	kidney
33	chr14:35092600-35097000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:35092600-35097200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:35092600-35097800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:35092800-35097200	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:35092800-35097600	Weak transcription	NHLF	lung
38	chr14:35092800-35097800	Weak transcription	GM12878-XiMat	blood
39	chr14:35092800-35097800	Weak transcription	K562	blood
40	chr14:35092800-35098000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:35092800-35098000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:35093000-35097000	Weak transcription	Dnd41	blood
43	chr14:35093000-35097200	Weak transcription	Small Intestine	intestine
44	chr14:35093000-35097200	Weak transcription	Thymus	Thymus
45	chr14:35093000-35097600	Weak transcription	Brain Germinal Matrix	brain
46	chr14:35093000-35097600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:35093000-35097800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:35093000-35098000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:35093000-35098000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:35093000-35098000	Weak transcription	Liver	Liver

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